1-166989779-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032858.3(MAEL):c.175C>G(p.Arg59Gly) variant causes a missense change. The variant allele was found at a frequency of 0.00000496 in 1,613,738 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032858.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MAEL | NM_032858.3 | c.175C>G | p.Arg59Gly | missense_variant | Exon 2 of 12 | ENST00000367872.9 | NP_116247.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151982Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250486Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135512
GnomAD4 exome AF: 0.00000479 AC: 7AN: 1461756Hom.: 0 Cov.: 31 AF XY: 0.00000413 AC XY: 3AN XY: 727162
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151982Hom.: 0 Cov.: 31 AF XY: 0.0000135 AC XY: 1AN XY: 74218
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.175C>G (p.R59G) alteration is located in exon 2 (coding exon 2) of the MAEL gene. This alteration results from a C to G substitution at nucleotide position 175, causing the arginine (R) at amino acid position 59 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at